Gene Report

ADD to My Gene Set

Basic Info

Approved Symbol	PALB2
Symbol Alias	FLJ21816, FANCN
Approved Name	partner and localizer of BRCA2
Name Alias	Fanconi anemia, complementation group N
Location	16p12.1
Position	chr16:23603160-23641310, -1
External Links	HGNC: 26144 Entrez Gene: 79728 Ensembl: ENSG00000083093 UCSC: uc002dlx.1
No. of Studies	5 (Positive: 2; Negative: 2; trend: 1)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 5)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Moskvina, V.,2009		In BP:Smallest P-value per gene=0.0005, Product of P truncation <=0.01=0.0005, Product of P truncation <=0.001=0.0005. It showed evidence for association with BD.	Positive	Comment on Study
Ollila, H. M.,2009	SNP: rs420259	It showed no evidence for association with BPI in our study.	Negative	Comment on Study
Yosifova, A.,2009	SNP: rs420259	No SNP of this gene had significant association with BD in our population.	Negative	Comment on Study
Georgi, B., 2014	SNP: rs45551636	Putative damaging exonic variant was found within this gene.	Trend	Comment on Study
Tesli, M.,2010	SNP: rs420259	Our findings support PALB2 and BRCA2 as risk genes specifically for BD, and suggest that altered DNA repair related to neurogenesis may be involved in BD pathophysiology.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 11)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0003677	DNA binding	molecular function	IDA[20871616]	83

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005654	nucleoplasm	cellular component	IDA; TAS	163
GO:0043066	negative regulation of apoptotic process	biological process	IEA	46
GO:0001833	inner cell mass cell proliferation	biological process	IEA	2
GO:0009887	organ morphogenesis	biological process	IEA	9
GO:0001756	somitogenesis	biological process	IEA	3
GO:0007498	mesoderm development	biological process	IEA	1
GO:0036342	post-anal tail morphogenesis	biological process	IEA	2
GO:0000724	double-strand break repair via homologous recombination	biological process	IDA[19369211]	9
GO:0006281	DNA repair	biological process	TAS	16
GO:0005515	protein binding	molecular function	IPI[19369211]	563

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 0)

Related other genetic factors

Gene related SNPs (count: 3)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs45551636	chr16:23622972 - 23622972(1)	downstream_gene_variant; intron_variant; missense_variant; non_coding_transcript_variant; upstream_gene_variant	1(0/0/1)
rs420259	chr16:23622705 - 23622705(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant	5(3/2/0)

rs_ID	Literature-origin SNPs with LD	Location	Functional Annotation
rs249954		chr16:23629146 - 23629146(1)	intron_variant; NMD_transcript_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 16	chr16:0-90338345	5 (1/3/1)
16p12	chr16:16700000-28500000	2 (1/1/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Reference	Description	Result Category
19065143	It showed no evidence for association with SZ.	Negative
20872766	Neither the PALB2 SNP rs420259 nor the BRCA2 SNP rs9567552 were nominally significantly associated with the SCZ phenotype in our Scandinavian sample.	Negative

Reference	ID in SZGene	Result Category
20872766	1002	Negative

Gene relationship with MDD

View in gBrowse

Region: chr16:23603160..23641310 View in gBrowse